title: Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA.
abstract: Congenital cataracts are a common major abnormality of the eye that frequently cause blindness in infants. At least a third of all cases are familial; autosomal dominant congenital cataract (ADCC) appears to be the most common familial form in the Western world. We have mapped an ADCC gene in family ADCC-2 to chromosome 21q22.3 near the alpha-crystallin gene CRYAA. By sequencing the coding regions of CRYAA, we found that a missense mutation, R116C, is associated with ADCC in this family.
authors.affiliation: Department of Molecular and Medical Genetics, Oregon Health Sciences University, Portland, OR 97201, USA. litt@ohsu.edu
authors.forename: M
authors.initials: M
authors.lastname: Litt
authors.forename: P
authors.initials: P
authors.lastname: Kramer
authors.forename: D M
authors.initials: DM
authors.lastname: LaMorticella
authors.forename: W
authors.initials: W
authors.lastname: Murphey
authors.forename: E W
authors.initials: EW
authors.lastname: Lovrien
authors.forename: R G
authors.initials: RG
authors.lastname: Weleber
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D002386:Cataract / Q000151:congenital / Q000235:genetics*; D002874:Chromosome Mapping; D002891:Chromosomes, Human, Pair 21; D003459:Crystallins / Q000235:genetics*; D005091:Exons; D005260:Female; D005799:Genes, Dominant; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D007438:Introns; D008126:Lod Score; D008297:Male; D018895:Microsatellite Repeats; D008969:Molecular Sequence Data; D010375:Pedigree; D017354:Point Mutation; D016415:Sequence Alignment; D017386:Sequence Homology, Amino Acid
chemical_list: D003459:Crystallins; D005819:Genetic Markers